Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.

ABSTRACT: OBJECTIVE:Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles. Though at least 40 loci have attained genomewide significant association with nonsyndromic CL/P, these loci largely reside in noncoding regions of the human genome, and subsequent resequencing studies of neighboring candidate genes have revealed only a limited number of etiologic coding variants. The present study was conducted to identify etiologic coding variants in GREM1, a locus that has been shown to be largely associated with cleft of both lip and soft palate. PATIENTS AND METHOD:We resequenced DNA from 397 sub-Saharan Africans with CL/P and 192 controls using Sanger sequencing. Following analyses

SUBMITTER: Gowans LJJ 

PROVIDER: S-EPMC6081638 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature